• Gene id: 928

Gene Summary

• Gene Symbol: CD9   Gene   UCSC   Ensembl
• Aliases: BTCC-1, DRAP-27, MIC3, MRP-1, TSPAN-29, TSPAN29
• Gene name: CD9 molecule
• Alternate names: CD9 antigen, 5H9 antigen, BA-2/p24 antigen, CD9 antigen (p24), antigen CD9, cell growth-inhibiting gene 2 protein, leukocyte antigen MIC3, motility related protein-1, tetraspanin-29,
• Gene location: 12p13.31 (6199706: 6238270)     Exons: 9     NC_000012.12
• Gene summary(Entrez): This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded p
• OMIM: 143030

SNPs

rs62180545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.216859821A>G
NC_000002.11   g.217724544A>G|SEQ=[A/G]|GENE=TNP1
LOC101928278   101928278

Protein Summary

• Protein general information: P21926  
  • Name: CD9 antigen (5H9 antigen) (Cell growth inhibiting gene 2 protein) (Leukocyte antigen MIC3) (Motility related protein) (MRP 1) (Tetraspanin 29) (Tspan 29) (p24) (CD antigen CD9)
  • Length: 228  
  • Mass: 25,416
• Sequence:

  MPVKGGTKCIKYLLFGFNFIFWLAGIAVLAIGLWLRFDSQTKSIFEQETNNNNSSFYTGVYILIGAGALMMLVGF
  LGCCGAVQESQCMLGLFFGFLLVIFAIEIAAAIWGYSHKDEVIKEVQEFYKDTYNKLKTKDEPQRETLKAIHYAL
  NCCGLAGGVEQFISDICPKKDVLETFTVKSCPDAIKEVFDNKFHIIGAVGIGIAVVMIFGMIFSMILCCAIRRNR
  EMV

• Structural information:
  • Interpro: IPR000301  IPR018499  IPR018503  IPR008952  
  • Prosite: PS00421
  • DIP: 1122
  • STRING: ENSP00000009180
• Other Databases: GeneCards:  CD9  Malacards:  CD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0002576	platelet degranulation	TAS	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006928	movement of cell or subcellular component	IDA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0007420	brain development	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009414	response to water deprivation	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0016020	membrane	ISS	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030168	platelet activation	NAS	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030913	paranodal junction assembly	ISS	biological process
GO:0030913	paranodal junction assembly	IBA	biological process
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0031623	receptor internalization	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071404	cellular response to low-density lipoprotein particle stimulus	ISS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005178	integrin binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006928	movement of cell or subcellular component	IDA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0007338	single fertilization	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IEA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0007420	brain development	IEA	biological process
GO:0008285	negative regulation of cell proliferation	IEA	biological process
GO:0009414	response to water deprivation	IEA	biological process
GO:0009897	external side of plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0014003	oligodendrocyte development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0030168	platelet activation	NAS	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0030913	paranodal junction assembly	ISS	biological process
GO:0030913	paranodal junction assembly	IBA	biological process
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0031623	receptor internalization	IEA	biological process
GO:0031623	receptor internalization	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071404	cellular response to low-density lipoprotein particle stimulus	IEA	biological process
GO:0071404	cellular response to low-density lipoprotein particle stimulus	ISS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component
GO:0002576	platelet degranulation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005615	extracellular space	IDA	cellular component
GO:0005886	plasma membrane	NAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	NAS	cellular component
GO:0005925	focal adhesion	IDA	cellular component
GO:0006928	movement of cell or subcellular component	IDA	biological process
GO:0007155	cell adhesion	IDA	biological process
GO:0007166	cell surface receptor signaling pathway	IBA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	IDA	biological process
GO:0007342	fusion of sperm to egg plasma membrane	TAS	biological process
GO:0016020	membrane	ISS	cellular component
GO:0030168	platelet activation	NAS	biological process
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030666	endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030669	clathrin-coated endocytic vesicle membrane	TAS	cellular component
GO:0030913	paranodal junction assembly	ISS	biological process
GO:0030913	paranodal junction assembly	IBA	biological process
GO:0031092	platelet alpha granule membrane	TAS	cellular component
GO:0031623	receptor internalization	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071404	cellular response to low-density lipoprotein particle stimulus	ISS	biological process
GO:1903561	extracellular vesicle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04640	Hematopoietic cell lineage

Diseases

Associated diseases	References
Alzheimer's disease	GAD: 19141999
Female infertility	INFBASE: 19955810
Fertilizing defects	INFBASE: 20862371
Oocyte maturation	INFBASE: 15526973
Asthenozoospermia	MIK: 23174138
Male factor infertility	MIK: 23174138
Hypospadias	MIK: 24778562
Asthenozoospermia	MIK: 23174138
Male infertility	MIK: 23174138
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
23174138	Idiopathic asthenozoospermia, male infertility			46 (25 infertile patients affected by idiopathic asthenozoospermia, 21 age-matched normospermic fertile donors)	Male infertility	Ezrin  Cdc42 CD9 F-actin and ?-tubulin
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
24778562	Hypospadias			13 (5 controls, 8 cases)	Male infertility	Microarray